ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.1783A>T (p.Ile595Phe)

gnomAD frequency: 0.00008  dbSNP: rs200605467
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001339716 SCV001533481 uncertain significance Myasthenic syndrome, congenital, 22 2022-03-18 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 684 of the PREPL protein (p.Ile684Phe). This variant is present in population databases (rs200605467, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with PREPL-related conditions. ClinVar contains an entry for this variant (Variation ID: 1036670). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002547389 SCV003751840 uncertain significance Inborn genetic diseases 2022-08-30 criteria provided, single submitter clinical testing The c.2050A>T (p.I684F) alteration is located in exon 13 (coding exon 13) of the PREPL gene. This alteration results from a A to T substitution at nucleotide position 2050, causing the isoleucine (I) at amino acid position 684 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.